Canonical Allele Identifier: CA10585056

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251366
• ClinVar RCV Id: RCV000237916
• dbSNP Id: rs879254624
• MyVariant Identifiers: chr19:g.11216249_11216275del (hg19) ; chr19:g.11105573_11105599del (hg38)
• PubMed: PMID:20809525 ; PMID:23669246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105573_11105599del , CM000681.2:g.11105573_11105599del	GRCh38
NC_000019.9:g.11216249_11216275del , CM000681.1:g.11216249_11216275del	GRCh37
NC_000019.8:g.11077249_11077275del	NCBI36
NG_009060.1:g.21193_21219del , LRG_274:g.21193_21219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.925_951del	ENSP00000252444.6:p.Lys309_Cys317del
ENST00000559340.2:c.667_693del	ENSP00000453696.2:p.Lys223_Cys231del
ENST00000560467.2:c.667_693del	ENSP00000453513.2:p.Lys223_Cys231del
ENST00000558518.6:c.667_693del MANE Select	ENSP00000454071.1:p.Lys223_Cys231del
ENST00000252444.9:c.921_947del
ENST00000455727.6:c.314-1819_314-1793del	ENSP00000397829.2:n.314-1819_314-1793del
ENST00000535915.5:c.544_570del	ENSP00000440520.1:p.Lys182_Cys190del
ENST00000545707.5:c.314-992_314-966del	ENSP00000437639.1:n.314-992_314-966del
ENST00000557933.5:c.667_693del	ENSP00000453557.1:p.Lys223_Cys231del
ENST00000558013.5:c.667_693del	ENSP00000453346.1:p.Lys223_Cys231del
ENST00000558518.5:c.667_693del	ENSP00000454071.1:p.Lys223_Cys231del
ENST00000560467.1:c.267_293del
NM_000527.4:c.667_693del , LRG_274t1:c.667_693del	NP_000518.1:p.Lys223_Cys231del
NM_001195798.1:c.667_693del	NP_001182727.1:p.Lys223_Cys231del
NM_001195799.1:c.544_570del	NP_001182728.1:p.Lys182_Cys190del
NM_001195800.1:c.314-1819_314-1793del	NP_001182729.1:n.314-1819_314-1793del
NM_001195803.1:c.314-992_314-966del	NP_001182732.1:n.314-992_314-966del
XM_011528010.1:c.667_693del	XP_011526312.1:p.Lys223_Cys231del
XM_011528011.1:c.314-992_314-966del	XP_011526313.1:n.314-992_314-966del
XR_244074.2:n.817_843del
XM_011528010.2:c.667_693del	XP_011526312.1:p.Lys223_Cys231del
XR_001753685.2:n.784_810del
XR_001753686.2:n.784_810del
NM_000527.5:c.667_693del MANE Select	NP_000518.1:p.Lys223_Cys231del
NM_001195798.2:c.667_693del	NP_001182727.1:p.Lys223_Cys231del
NM_001195799.2:c.544_570del	NP_001182728.1:p.Lys182_Cys190del
NM_001195800.2:c.314-1819_314-1793del	NP_001182729.1:n.314-1819_314-1793del
NM_001195803.2:c.314-992_314-966del	NP_001182732.1:n.314-992_314-966del